GALNT3 gene related symptoms and diseases

All the information presented here about the GALNT3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GALNT3 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Foam cells Very Common - Between 80% and 100% cases
Decreased renal tubular phosphate excretion Very Common - Between 80% and 100% cases
Increased renal tubular phosphate reabsorption Very Common - Between 80% and 100% cases
Periostitis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GALNT3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Calcinosis cutis
  • Periostosis
  • Subperiosteal bone formation
  • Pulp stones
  • Vascular calcification
  • Septic arthritis
  • Angioid streaks of the fundus
  • Ectopic calcification

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to GALNT3 gene

Here you will find a list of rare diseases related to the GALNT3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME


Alternate names

FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME Is also known as cortical hyperostosis with hyperphosphatemia, calcinosis, tumoral, with hyperphosphatemia, hftc, hhs, hyperostosis with hyperphosphatemia, hypercalcemic tumoral calcinosis, tumoral calcinosis, hyperphosphatemic, familial, phptc, hyperostosis-hyperphosphatemia syn

Description

Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.

Most common symptoms of FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME

  • Pain
  • Anemia
  • Hypertension
  • Dilatation
  • Arthritis


More info about FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for GALNT3 gene

ExomePLUS Electrolyte & Kidney Stone Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73

More info about this panel

GALNT3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GALNT3 gene.

More info about this panel

Tumoral calcinosis, hyperphosphatemic (sequence analysis of GALNT3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GALNT3 gene.

More info about this panel

Tumoral calcinosis, hyperphosphatemic, familial Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the GALNT3 gene.

More info about this panel

Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3-Related Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the GALNT3 gene.

More info about this panel

GALNT3-Related Disorders via GALNT3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GALNT3 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Hyperphosphatemic familial tumoral calcinosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Hyperphosphatemic familial tumoral calcinosis Comprehensive panel that also includes the following genes: FGF23 GALNT3 KL

More info about this panel

Hyperphosphatemic familial tumoral calcinosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Hyperphosphatemic familial tumoral calcinosis Deletion / Duplication panel that also includes the following genes: FGF23 GALNT3 KL

More info about this panel

Hyperphosphatemic familial tumoral calcinosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Hyperphosphatemic familial tumoral calcinosis NGS panel that also includes the following genes: FGF23 GALNT3 KL

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Single gene testing GALNT3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the GALNT3 gene.

More info about this panel

Tumoral calcinosis, hyperphosphatemic: GALNT3 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GALNT3 gene.

More info about this panel

Congenital disorder of O-linked glycosylation (CDG) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of O-linked glycosylation (CDG) that also includes the following genes: XYLT1 B4GAT1 HES7 CHSY1 B3GALT6 FKRP POMGNT1 CHST3 POMT2 B3GLCT

More info about this panel

Congenital Disorders of Glycosylation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

GALNT3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GALNT3 gene.

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Skeletal Dysplasia with Abnormal Mineralization Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Tumoral calcinosis Panel

Spain.

By Bioarray

This panel specifically test the GALNT3 gene.

More info about this panel

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GALNT3 gene.

More info about this panel

Familial Hyperphosphatemic Tumoral Calcinosis , Sequencing GALNT3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GALNT3 gene.

More info about this panel

Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel

Spain.

By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PARP1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more